BMP6

bone morphogenetic protein 6

Summary

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates a wide range of biological processes including iron homeostasis, fat and bone development, and ovulation. Differential expression of this gene may be associated with progression of breast and prostate cancer. Mutations in this gene may be associated with iron overload in human patients. [provided by RefSeq, Jul 2016]

Known Variants91 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1430077136:7,673,359T/C—conflicting classifications of pathogenicity
rs38121636:7,725,760A/Tregulatory region variant—
rs10487742516:7,727,255G/A—uncertain significance
rs1115886936:7,727,271G/A—benign
rs14503242066:7,727,285G/A—uncertain significance
rs7561215236:7,727,357C/T—uncertain significance
rs7715743206:7,727,399C/G—uncertain significance
rs2017880226:7,727,413G/A—benign
rs17617439346:7,727,427A/C—uncertain significance
rs7580741946:7,727,453C/T—uncertain significance
rs3769220726:7,727,468C/T—uncertain significance
rs1995182166:7,727,471C/T—likely benign
rs7502465906:7,727,472C/T—uncertain significance
rs2005731756:7,727,475T/C—likely benign
rs7466353866:7,727,477C/T—uncertain significance
rs2014864986:7,727,522G/C—risk factor
rs77452366:7,727,525C/G—benign
rs2005546606:7,727,527G/A—benign
rs7463498986:7,727,558C/T—uncertain significance
rs7474274456:7,727,597C/A—likely pathogenic
rs7742454156:7,727,615C/G—uncertain significance
rs7764351206:7,727,627A/G—likely benign
rs17617531276:7,727,628A/G—uncertain significance
rs13592349916:7,727,638C/G—uncertain significance
rs2016037186:7,727,641G/T—likely benign
rs5725075516:7,727,643C/A—uncertain significance
rs17617547476:7,727,660C/T—risk factor
rs1388136856:7,727,668C/T—likely benign
rs7574159576:7,727,714C/G—uncertain significance
rs5313731296:7,727,753G/A—benign
rs5330776816:7,727,755C/T—likely benign
rs7624062876:7,727,793G/C—uncertain significance
rs9849692386:7,727,794C/A—uncertain significance
rs13422801406:7,727,795G/T—uncertain significance
rs1831033606:7,727,800G/A—likely benign
rs7506540766:7,727,811T/C—uncertain significance
rs3711651146:7,727,812C/G—uncertain significance
rs7515255836:7,727,814T/C—uncertain significance
rs1997899656:7,727,824G/A—benign
rs7676011096:7,727,849C/T—likely benign
rs20683616:7,736,743C/Tintron variant—
rs7356666:7,739,442T/Aintron variant—
rs23270086:7,741,932C/Tintron variant—
rs95052706:7,743,663G/Aintron variant—
rs2703936:7,768,852G/A——
rs728270886:7,792,585G/Aintron variant—
rs104986726:7,797,840C/Gintron variant—
rs99425106:7,800,306G/Aintron variant—
rs69234626:7,801,112T/Cintron variant—
rs5532914196:7,801,145A/G——
rs171431416:7,801,217G/Aintron variant—
rs69244246:7,801,611T/A——
rs121905516:7,805,916G/Cintron variant—
rs728270976:7,808,936C/Tintron variant—
rs95052866:7,820,353T/Cintron variant—
rs1461125896:7,839,124G/Aintron variant—
rs13574016656:7,845,370T/C—likely benign
rs24806284506:7,845,378T/G—uncertain significance
rs2012783266:7,845,406G/A—uncertain significance
rs1489162696:7,845,478G/A—likely benign
rs2671966:7,849,335T/Aintron variant—
rs1441293566:7,861,703T/C—likely benign
rs5307174056:7,861,713G/A—uncertain significance
rs7731884626:7,861,730G/A—uncertain significance
rs7740424486:7,861,758C/T—uncertain significance
rs1392188416:7,861,785C/T—uncertain significance
rs15812837466:7,862,540A/G—uncertain significance
rs617336126:7,862,541C/T—benign
rs617336116:7,862,556C/T—benign
rs7564533546:7,862,578G/A—uncertain significance
rs175586:7,862,589T/C—benign
rs3692273146:7,862,625T/G—uncertain significance
rs175576:7,862,631G/C—benign
rs7558104846:7,862,634C/T—likely benign
rs7475243556:7,862,645C/G—uncertain significance
rs2016060236:7,862,715G/T—likely benign
rs4085056:7,866,427T/Cintron variant—
rs12259346:7,877,419A/T——
rs13187427626:7,879,313A/G—uncertain significance
rs5289027726:7,879,316G/A—uncertain significance
rs8951607636:7,880,224G/A—uncertain significance
rs1383261746:7,880,316C/T—likely benign
rs15812978176:7,880,341T/G—likely benign
rs3685297706:7,880,445G/A—uncertain significance
rs1393611836:7,880,494C/T—uncertain significance
rs1493916486:7,880,519C/G—likely benign
rs10441046:7,881,311A/Gregulatory region variant—
rs95052986:7,881,449G/Aregulatory region variant—
rs413028956:7,881,754A/Tdownstream gene variant—
rs10437846:7,881,931T/Cregulatory region variant—
rs77641286:7,882,205G/Aregulatory region variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.